Canonical Allele Identifier: CA525433041
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1399233876

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731103T>G , CM000663.2:g.115731103T>G GRCh38
NC_000001.10:g.116273724T>G , CM000663.1:g.116273724T>G GRCh37
NC_000001.9:g.116075247T>G NCBI36
NG_008802.1:g.42703A>C , LRG_404:g.42703A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+1011A>C ENSP00000518226.1:n.425+1011A>C
ENST00000261448.6:c.606+1798A>C MANE Select ENSP00000261448.5:n.606+1798A>C
ENST00000261448.5:c.606+1798A>C ENSP00000261448.5:n.606+1798A>C
ENST00000488931.1:n.122+1011A>C
NM_001232.3:c.606+1798A>C , LRG_404t1:c.606+1798A>C NP_001223.2:n.606+1798A>C
NM_001232.4:c.606+1798A>C MANE Select NP_001223.2:n.606+1798A>C